Trachoo, O., Assanatham, M., Jinawath, N., & Nongnuch, A. A … The syndrome is associated with epileptic seizures, behaviour disorders and mental retardation. In a reciprocal translocation, segments from two different chromosomes have been exchanged. Features that often occur in people with chromosome 7q duplication include developmental delay, … Trisomy 20p resulting from inverted duplication and neocentromere formation. In addition, Chromosome 18q- syndrome is often characterized by low muscle tone (hypotonia); sudden episodes of uncontrolled electrical activity in the brain (seizures); moderate to severe delays in the acquisition of skills requiring the coordination of mental and physical activities (psychomotor retardatio… Contact a GARD Information Specialist. There are two main types of translocation. Chromosome 22q Duplication Syndrome is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 22 The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved Chromosome 20 is one of the 23 pairs of chromosomes in humans. Chromosomes are the structures in each cell of the body that carry genetic information, telling it how to develop and function. expand submenu for Find Diseases By Category, expand submenu for Patients, Families and Friends, expand submenu for Healthcare Professionals. Have a question? The parents’ chromosomes have been checked and no duplication or other chromosome … During the newborn period he was found to have a right-sided cleft lip and cleft palate, hypertelorism, strabismus and … Chromosome 7q Duplication Syndrome is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7 The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved When a parent has one of these, there is an increased risk to have another child with a chromosome abnormality. (Source: Chromosome 20p Duplication Syndrome; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.). LeChien, K. A., McPherson, E., & Estop, A. M. (1994). Duplication 20p; Trisomy 20p; 20p duplication; Duplication 20p; Trisomy 20p; 20p duplication; 20p trisomy; Partial trisomy 20p, placeholder for the horizontal scroll slider, Office of Rare Disease Research Facebook Page, Office of Rare Disease Research on Twitter, U.S. Department of Health & Human Services, Caring for Your Patient with a Rare Disease, Preguntas Más Frecuentes Sobre Enfermedades Raras, Como Encontrar un Especialista en su Enfermedad, Consejos Para una Condición no Diagnosticada, Consejos Para Obtener Ayuda Financiera Para Una Enfermedad, Preguntas Más Frecuentes Sobre los Trastornos Cromosómicos, Unique – Rare Chromosome Disorder Support Group. Two copies of chromosome 20, one copy inherited from each parent, form one of the pairs. rare disease research! Trisomy of the long arm of chromosome 20 is rare. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Synonyms: Duplication 20p; Trisomy 20p Recent clinical studies. Cytogenomic characterization of an unexpected 17.6 Mb 9p deletion associated to a 14.8 Mb 20p duplication in a dysmorphic patient with multiple congenital anomalies presenting a normal G-banding karyotype. In these cases, it is unlikely the parents would have another child with a chromosome abnormality, The treatment for Chromosome 20p Duplication Syndrome depends on the signs and symptoms present in each person, Chromosome 20p Duplication Syndrome is a rare congenital disorder, with very few cases reported worldwide, The presentation of symptoms may occur at birth, Worldwide, individuals of all racial and ethnic groups may be affected, A positive family history may be an important risk factor, since Chromosome 20p Duplication Syndrome can be inherited, Currently, no other risk factors have been clearly identified for the syndrome, A healthy parent having a chromosome balanced translocation or inversion (when a piece of a chromosome is facing the wrong direction). Please remove adblock to help us create the best medical content found on the Internet. Chromosome 20p, partial duplication: A rare chromosomal disorder where a copy of the short arm of chromosome 20 has been triplicated instead of duplicated resulting in various anomalies. Partial duplication of chromosome 20 (20pter®20q12) resulting from a maternally inherited translocation t(14;20)(q11;q13) is described in a female child with neuropsychomotor retardation and multiple congenital anomalies.To our knowledge this is the largest duplication of chromosome 20 that includes segments of both the short and the long arms thus far described in a live-born child. The in-depth resources contain medical and scientific language that may be hard to understand. Chromosome Xq Duplication Syndrome is caused by an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell The consequences of over-expression of many of the genes located in this region are not well understood. 20 p duplication as a result of parental translocation: familial case report and a contribution to the clinical delineation of the syndrome. Get the latest research information from NIH: https://covid19.nih.gov (link is external). Chromosome 20p Duplication Syndrome may be caused by: The signs and symptoms of Chromosome 20p Duplication Syndrome may include the following: Chromosome 20p Duplication Syndrome is diagnosed on the basis of the following information: Many clinical conditions may have similar signs and symptoms. We want to hear from you. Meloni, V. D. F. A., Piazzon, F. B., de Faria Soares, M. D. F., Takeno, S. S., Christofolini, D. M., Kulikowski, L. D., ... & Melaragno, M. I. December 31, 2014. The duplication occurs on the long (q) arm of the chromosome at a location designated q21.1.. Also, not having a risk factor does not mean that an individual will not get the condition. Chromosome 20 trisomy, (also called trisomy 20) is a condition in which a fetus or individual has an extra full or partial copy of chromosome 20 in some or all of of his/her cells. You can help advance A microarray showed duplication to be within the short arm of chromosome 20 (10,524,474–11,322,239), as confirmed by FISH. Some chromosome 20p duplications have resulted from a random genetic error (not inherited), in which both parents have normal chromosomes. Maternally inherited partial monosomy 9p (pter→ p24. Get the latest public health information from CDC: https://www.coronavirus.gov (link is external) Chromosome 20p Duplication Syndrome is a rare chromosome abnormality that occurs when there is an extra copy (duplication) of genetic material on the short arm (p) of chromosome 20. MedGen UID: 430799 • Concept ID: CN036827 • Disease or Syndrome. How can we make GARD better? Chromosome 7q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 7.The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Chromosome 20 spans around 63 million base pairs (the building material of DNA) and represents between 2 and 2.5 percent of the total DNA in cells. Inclusion on this list is not an endorsement by GARD. American Journal of Medical Genetics Part A, 155(11), 2754-2761. Nagamani SC, Erez A, Bader P, et al. Adverts are the main source of Revenue for DoveMed. Clinical Features Lueken (1938) reported syndactyly I in 18 males and 29 females of 5 generations illustrating the various degrees of expressivity of the same gene. The chromosome 16p12.2-p11.2 deletion syndrome, 7.1- to 8.7-Mb [OMIM#613604] is characterized by minor facial anomalies, feeding difficulties, a significant delay in speech development, and recurrent ear infections. Chromosome 20p duplication is a rare chromosome abnormality that occurs when there is an extra copy (duplication) of genetic material on the short arm (p) of chromosome 20. We want to hear from you. Am J Med Genet. 1995 Nov 20;59(3):369-74. Review. Questions sent to GARD may be posted here if the information could be helpful to others. The first break is at p25.1 and the second at p25.3 so these are the ends of the extra section dn The duplication has occurred de novo or as a ‘new event’. David Adler.hum_20.gif Introduction Chromosome 20 contains about 2% of the whole genetic material. American Journal of Medical Genetics Part A, 50(2), 187-189. The complications of Chromosome 20p Duplication Syndrome may include: Complications may occur with or without treatment, and in some cases, due to treatment also. A conventional cytogenetic study revealed the complex structural rearrangement of chromosome 20 [der (20) dup (20) (p11.2p13) del (20) (p13.pter)]. Chromosome 15q duplication is a chromosome abnormality that occurs when an extra copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The following DoveMed website link is a useful resource for additional information: http://www.dovemed.com/diseases-conditions/rare-disorders/, Genetic and Rare Diseases (GARD) Information CenterPO Box 8126 Gaithersburg, MD 20898-8126Toll-Free: (888) 205-2311TTY: (888) 205-3223International Telephone Access Number: (301) 251-4925Fax: (301) 251-4911Website: http://rarediseases.info.nih.gov, Chromosome Disorder Outreach (CDO)PO Box 724, Boca Raton FL 33429-0724Phone: (561) 395-4252 (Family Helpline)Email: info@chromodisorder.orgWebsite: http://www.chromodisorder.org, Unique – Rare Chromosome Disorder Support Group G1, The Stables, Station Road WestSurrey, RH8 9EE, United KingdomPhone: +44 (0)1883 723356E-mail: info@rarechromo.orgWebsite: http://www.rarechromo.org, https://rarediseases.info.nih.gov/diseases/5315/chromosome-20p-duplication (Accessed on 02/14/2018). Since then, due to sequencing improvements and fixes, the length of chromosome 20 has been updated to just over 63 million base pairs. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Chromosome 20p inverted duplication deletion identified in a Thai female adult with mental retardation, obesity, chronic kidney disease and characteristic facial features. Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome. Chromosome 20 was fully sequenced in 2001 and was reported to contain over 59 million base pairs. Some people with a 1q21.1 microduplication have developmental delay and intellectual disability that is typically mild to moderate. makes chromosome 6 one of the larger chromosomes, containing more than 1,000 genes, perhaps as many as 1,600. Chromosome 20 contains ~700–800 genes. Reciprocal duplications of 16p12.2-p11.2 have been reported in some patients with autism. Chromosome 20p Duplication Syndrome is a rare chromosome abnormality that occurs when there is an extra copy (duplication) of genetic material on the short arm (p) of chromosome 20 The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. A FISH analysis, using probes against duplication and deletion regions, confirmed that there was an inverted duplication of p11.2-p13 and a deletion in the subtelomere region. (2012). You may want to review these resources with a medical professional. Clinical genetics, 41(6), 285-289. American Journal of Medical Genetics Part A, 143(10), 1100-1103. (p25.1p25.3) The chromosome has broken in two places. Chaabouni, M., Turleau, C., Karboul, L., Jemaa, L. B., Maazoul, F., Attié‐Bitach, T., ... & Chaabouni, H. (2007). Explore more on Chromosome 20, Duplication 20p below! result of chromosome 20 duplication (20pter → 20q12). Search . It is important to note that having a risk factor does not mean that one will get the condition. Less than 10% of these genes are known to be related to human diseases. Its genetic length is ~63 Mb. Chromosome 20, Duplication 20p Bioinformatics Tool Laverne is a handy bioinformatics tool to help facilitate scientific exploration of related genes, diseases and pathways based on co-citations. The majority of those have been partial duplications (involving only part of the p arm) and have occurred as part of a translocation (along with a deletion on another chromosome). For more information on how to use Laverne, please read the How to Guide. If you have problems viewing PDF files, download the latest version of Adobe Reader, For language access assistance, contact the NCATS Public Information Officer, Genetic and Rare Diseases Information Center (GARD) - PO Box 8126, Gaithersburg, MD 20898-8126 - Toll-free: 1-888-205-2311. We want to hear from you. ABSTRACT . A 4p duplication is a rare chromosome disorder in which some of the material in one of the body’s 46 chromosomes is duplicated. T Thienpont B, Béna F, Breckpot J, et al. Sidwell, R. U., Pinson, M. P., Gibbons, B., Byatt, S. A., Svennevik, E. C., Hastings, R. J., & Flynn, D. M. (2000). Chromosome 20p Duplication Syndrome is a rare chromosome abnormality that occurs when there is an extra copy (duplication) of genetic material on the short arm (p) of chromosome 20, The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Therefore, it is hard to know which symptoms in people with a 20p duplication have been due to the duplication specifically, Signs and symptoms that have been reported in people with Chromosome 20p Duplication Syndrome include intellectual disability, developmental delay, speech delay, poor coordination, dental problems, spinal bone abnormalities, distinctive facial features, and heart problems, Most cases of Chromosome 20p Duplication Syndrome have resulted from a healthy parent having a chromosome balanced translocation or inversion (when a piece of a chromosome is facing the wrong direction). The most common abnormality of chromosome 20 in haematological malignancy is deletion of the long arm [del(20q)]. Pure trisomy 20p resulting from isochromosome formation and whole arm translocation. If you do not want your question posted, please let us know. In general, smaller duplications are less severe than larger duplications, Very few cases of Chromosome 20p Duplication Syndrome have been reported. A chromosome 20p duplication is a rare genetic condition caused by extra material on one of the body’s 46 chromosomes. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis. J Med Genet 2010; 47:155. 1) characterized by microarray comparative genomic hybridization. We want to hear from you. Chromosome Xq duplication is a chromosome abnormality that affects many different parts of the body. Do you know of an organization? Grammatico, P., Cupilari, F., Rosa, C. D., Falcolini, M., & Porto, G. D. (1992). Gene, 496(1), 59-62. They can direct you to research, resources, and services. Chromosome 20 spans about 63 million DNA building blocks (base pairs) and represents approximately 2 percent of the total DNA in cells. People with this condition have an extra copy of the genetic material located on the long arm (q) of the X chromosome in each cell.The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication; the genes involved; and the sex of … Chromosome 20- duplication 20p. Phenotypic manifestations of copy number variation in chromosome … Therefore it is believed that most of the clinical features associated with 7q11.23 duplications are probably caused by having three copies (instead of the usual two) of a number of genes. (2013). Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Chromosome 20p Duplication Syndrome may not be preventable, since it is a genetic disorder. Chromosome 20- duplication 20p. Voullaire, L., Saffery, R., Davies, J., Earle, E., Kalitsis, P., Slater, H., ... & Choo, K. H. (1999). Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Do you know of a review article? As noted above, associated symptoms and findings may vary from case to case. An extra full copy of chromosome 20 in all of a person's cells is rare, and almost all fetuses with this do not survive past the first trimester of pregnancy. It is always important to discuss the effect of risk factors with your healthcare provider. However, Steele (1990) reanalyzed the chromosomes from a frozen fibroblast culture and iden- A number sign (#) is used with this entry because syndactyly type I and Philadelphia-type craniosynostosis are caused by different-sized duplications on chromosome 2q35. De novo trisomy 20p of paternal origin. Duplication of 6p … Duplications: A portion of the chromosome is duplicated, resulting in extra genetic material. Chromosome 20, duplication 20p. A duplication of 6p means that the extra material is from the short arm of chromosome 6. 1) and partial trisomy 20p (pter→ p12. However, many infants with the disorder have a low birth weight and growth delays after birth, resulting in short stature. These resources provide more information about this condition or associated symptoms. Freitas, É. L., Gribble, S. M., Simioni, M., Vieira, T. P., Silva‐Grecco, R. L., Balarin, M. A., ... & van Haeringen, A. Supernumerary ring chromosome 20 characterized by fluorescence in situ hybridization. We remove all identifying information when posting a question to protect your privacy. Etiology. Some risk factors are more important than others. Abeer J. Hani, Mohamad A. Mikati, in Swaiman's Pediatric Neurology (Sixth Edition), 2017 3.2 Etiology. We describe an 18-month-old male who was born at 36 weeks via Caesarian section after an uneventful pregnancy. Visit the group’s website or contact them to learn about the services they offer. (2011). The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. JAG1 is located in this region encoding a ligand in the NOTCH1 signaling pathway. 1q21.1 microduplication is a chromosomal change in which a small amount of genetic material on chromosome 1 is abnormally copied (duplicated). There is no cure for Chromosome 20p Duplication Syndrome, since it is a genetic condition. European journal of medical genetics, 56(6), 319-324. Inversion duplication of the short arm of chromosome 8: clinical data on seven patients and review of the literature. http://www.rarechromo.org/information/Chromosome%2020/20p%20duplications%20FTNW.pdf, https://www.ncbi.nlm.nih.gov/pubmed/23612255. The first report of a child with trisomy of chromo-some 20 (Pan et al ., 1976) involved a neonate with unusual facial features and multiple congenital malformations who died 4 hours after birth. Each chromosome has a short (p) arm and a long (q) arm. Like most other chromosome disorders, this is associated to a variable extent with birth defects, developmental delay and learning difficulties. The treatment is usually given to manage the signs and symptoms and any complication that develops. People with a 7q11.23 duplication have one intact chromosome 7, but the other copy of chromosome 7 has an extra piece of the long q arm. This is reported in most cases of Chromosome 20p Duplication Syndrome, When a parent has a balanced translocation or inversion, there is an increased risk of having children with chromosome abnormalities, A random genetic error resulting in extra genetic material in the short arm (p) of chromosome 20 (in some cases), Abnormalities in structure and function of heart, Chromosomal analysis of cells from the developing fetus, Problems with movement due to lack of coordination, Severe back pain due to abnormalities in spine, Severe physical and intellectual deficiencies, leading to difficulties in day-to-day living, Behavioral problems that may include aggression or may be deemed inappropriate, Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy, If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child, Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders, Regular medical screening at periodic intervals with tests and physical examinations are recommended, The prognosis of Chromosome 20p Duplication Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any, Individuals with mild conditions have better prognosis than those with severe symptoms and complications, Typically, the prognosis may be assessed on a case-by-case basis.